The authors analyzed the cosmetic and functional results of a series of patients with unilateral congenital ptosis who underwent levator resection, to compare the outcome of surgery according to the age of intervention, and to evaluate the chance of ptosis recurrence in different age groups. Analysis of the clinical charts of 44 patients who underwent a unilateral levator muscle resection under the care of one surgeon from February 2000 to March 2012 was performed. Age at the time of surgery ranged from 2.1 to 12 years...

Anterior diaphragmatic defects with pericardial involvement are extremely rare and diagnostically challenging entities encountered perinatally. While a majority of diaphragmatic defects occur in isolation, others are associated with multiple defects forming a complex of syndromes such as Pentalogy of Cantrell. Liver herniation into the pericardial sac poses a particular challenge and can mimic a pericardial tumor on prenatal ultrasound, yielding a different management course. The following case is an unusual presentation of a 30-week gestation female with an anterior midline diaphragmatic defect with liver herniation mimicking as a pericardial tumor, diagnosed at time of autopsy...

Pentalogy of Cantrell (PC) is characterized by midline supraumbilical abdominal wall defect, lower sternum defect, anterior diaphragmatic and pericardial defect, and congenital cardiac anomalies. Several etiological influences have been postulated, however, most of the reported cases are sporadic. In addition, evidence for mechanical teratogenesis in PC is limited. Here, we describe in one dichorionic twin with complete PC, additional severe intrauterine amputations (mainly head and neck) not previously reported resultant from mechanical teratogenesis...

Congenital cystic lung lesions are a group of rare pathologies that are usually diagnosed in the prenatal period. The majority of these lesions are diagnosed at pathology examination as congenital pulmonary airway malformations (CPAM) and bronchopulmonary sequestration (BPS). These lesions are typically managed by surgical intervention within the first year of life and have an excellent prognosis. We examined the evolution of imaging appearances from prenatal diagnosis to postnatal work-up of these lesions and correlate imaging and pathological findings...

We describe a case of an infant diagnosed with severe combined immune deficiency (Adenosine Deaminase (ADA), SCID) with severe retinopathy and associated low vision in both eyes at first examination. An extensive infectious work up revealed an enterovirus infection, which suggested an early infectious and severe retinopathy. Genetic causes of congenital retinitis pigmentosa/ Leber's congenital amaurosis could be excluded by whole exome sequencing.

We report the case of a 12-year-old girl with a smooth muscle hamartoma of the right index finger. Smooth muscle hamartoma (SMH) is a congenital, relatively common disorder typically with predominance of autochthonal arrector pili muscles. An SMH can also rarely originate from smooth muscles of vessels in palmoplantar skin with the absence of pilosebaceous units. Because of overlapping histological features, the possibility of Becker's nevus being identical or associated with SMH has often been suspected by some authors...

INTRODUCTION: Double aortic arch is a congenital vascular abnormality in which the connected segments and their branches course between and compress the trachea and esophagus, often resulting in invariable airway compression. CASE PRESENTATION: A 4-year-old boy with a history of recurrent wheezing was admitted to our hospital for evaluation of asthma based on his past medical history, persistent cough, wheezing, and airway hyperresponsiveness by lung function test...

A rare case of an adult male with malformation of the skull, face, hands and feet called acrocephalosyndactly or Apert syndrome is presented. Its probable cause, features and treatment is discussed. It is a unique case who survived upto the age of 32 years without any operative intervention and adjusted in the society though he has all the stigmas of the above syndrome. We have concluded and made a point that in the adult sufferer, facial deformity is not so important and urgent for the treatment than syndactyly, which handicaps the sufferer in performing the daily routine work...

Thalassemia is a congenital hemolytic disease which is treated by repeated blood transfusion. Chronic iron overload is currently considered to be the primary cause of mortality in β-thalassemia, mainly due to the induction of left-sided cardiac failure. Iron overload results from a number of mechanisms associated with the disease itself. In addition to chronic iron overload thalassemic patients are more prone for procoagulant status which in turn lead to clinical thrombotic events. The hypercoagulable state in thalassemia is due to multiple elements, a combination of which is often the drive behind a clinical thromboembolic events...

Evidence from different screening programs indicated that the rate of congenital hypothyroidism (CH) was higher in pre-term and low-birth-weight (LBW) newborns than normal ones. Incomplete development of hypothalamic-pituitary axis in this group of neonates results in the delayed rise of TSH and missing cases with CH. Hence, there is a great need for a practicable systematic screening method for proper diagnosis of CH in this group of neonates. In this review, we systematically reviewed papers with the following key words ([Congenital Hypothyroidism AND Screening AND Thyroxine AND Thyroid Stimulating Hormone AND Low Birth Weight AND Premature]) in international electronic databases including PubMed, Scopus, and Google Scholar...

BACKGROUND: Infective endocarditis (IE) is uncommon in childhood. Its associated epidemiological characteristics in patients with congenital heart disease (CHD) remain unclear. METHODS: The study population included children born in Taiwan during the years 1997 to 2005 who were diagnosed as having CHD before 3years of age. All children were followed up until the end year of 2010, the diagnosis of infective endocarditis, or death. The demographic characteristics of patients with and without IE, the invasive procedures performed during 6months before the index date, the prophylactic antibiotics related to dental procedures, and in-hospital mortality were collected...

BACKGROUND: The study sought to evaluate if a bovine aortic arch (BAA) influences the location of the entry site in acute aortic dissection type A (AADA) and to identify the impact of BAA on postoperative outcome, especially stroke. METHODS: A total of 315 patients underwent surgery due to AADA DeBakey type I (72.1% men, mean age 59.5 ± 13.4 years) between 2002 and 2015. Imaging studies and operative reports were screened for presence of BAA and location of the entry site...

Sudden cardiac death (SCD) describes a natural and unexpected death from cardiac causes occurring within a short period of time (generally within 1 h of symptom onset) in the absence of any other potentially lethal condition. Most SCD-related diseases have a genetic basis; in particular congenital cardiac channelopathies and cardiomyopathies have been described as leading causes of SCD. Congenital cardiac channelopathies are primary electric disorders caused by mutations affecting genes encoding cardiac ion channels or associated proteins, whereas cardiomyopathies are related to mutations in genes encoding several categories of proteins, including those of sarcomeres, desmosomes, the cytoskeleton, and the nuclear envelope...

BACKGROUND: Measuring thyroid stimulating hormone (TSH) eluted from a dried blood spot (DBS) is used to screen an estimated 30 million newborns annually for congenital hypothyroidism. Newborn thyroid screening has eliminated cretinism from the industrialized world and decreased the adverse effects of unrecognized congenital hypothyroidism on neurocognitive development. Hematocrit, a pre-analytic variable that affects the measurement of TSH from a DBS, contributes to the imprecision of DBS TSH measurement and could account for false negative and false positive DBS newborn screening test results...

The post-translational glycosylation of select proteins by O-linked mannose (O-mannose or O-man) is a conserved modification from yeast to humans and has been shown to be necessary for proper development and growth. The most well studied O-mannosylated mammalian protein is α-dystroglycan (α-DG). Hypoglycosylation of α-DG results in varying severities of congenital muscular dystrophies, cancer progression and metastasis, and inhibited entry and infection of certain arenaviruses. Defects in the gene products responsible for post-translational modification of α-DG, primarily glycosyltransferases, are the basis for these diseases...

The objective of the present study was to evaluate image quality and radiation dosage using a low-dose prospectively electrocardiogram (ECG)-gated computed tomography (CT) protocol for dual-source angiography in children with complex congenital heart disease. A total of 206 patients with complex congenital heart disease were equally assigned into two groups at random. The children in group A underwent low-dose retrospective ECG-gated CT scanning with an ECG-pulsing technique, and group B underwent prospective ECG-gated scanning with an ECG-pulsing technique...

Purpose: Emerging evidence has shown that both congenital and adult Zika virus (ZIKV) infection can cause eye diseases. The goals of the current study were to explore mechanisms and pathophysiology of ZIKV-induced eye defects. Methods: Wild-type or A129 interferon type I receptor-deficient mice were infected by either FSS13025 or Mex1-7 strain of ZIKV. Retinal histopathology was measured at different time points after infection. The presence of viral RNA and protein in the retina was determined by in situ hybridization and immunofluorescence staining, respectively...